Linked Data
dbSNP Id:
rs1405164662
gnomAD v2:
12-121659515-T-C
gnomAD v3:
12-121221712-T-C
gnomAD v4:
12-121221712-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121221712T>C , CM000674.2:g.121221712T>C | GRCh38 |
| NC_000012.11:g.121659515T>C , CM000674.1:g.121659515T>C | GRCh37 |
| NC_000012.10:g.120143898T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337233.9:c.283-201T>C MANE Select | ENSP00000336607.4:n.283-201T>C | |
| ENST00000314442.7:n.4417-201T>C | ||
| ENST00000337233.8:c.283-201T>C | ENSP00000336607.4:n.283-201T>C | |
| ENST00000359949.11:c.331-201T>C | ENSP00000353032.7:n.331-201T>C | |
| ENST00000499638.6:n.319-201T>C | ||
| ENST00000538417.2:c.213-201T>C | ||
| ENST00000538701.5:c.135-6821T>C | ENSP00000444033.1:n.135-6821T>C | |
| ENST00000540930.5:n.319-201T>C | ||
| ENST00000541187.5:n.129-201T>C | ||
| ENST00000542067.5:c.283-201T>C | ENSP00000438329.1:n.283-201T>C | |
| ENST00000543171.5:c.283-201T>C | ENSP00000438131.2:n.283-201T>C | |
| ENST00000543318.5:c.283-201T>C | ENSP00000444274.1:n.283-201T>C | |
| ENST00000543430.5:n.331-201T>C | ||
| ENST00000543984.5:c.135-201T>C | ENSP00000439386.1:n.135-201T>C | |
| NM_001256796.1:c.331-201T>C | NP_001243725.1:n.331-201T>C | |
| NM_001261397.1:c.283-201T>C | NP_001248326.1:n.283-201T>C | |
| NM_001261398.1:c.283-201T>C | NP_001248327.1:n.283-201T>C | |
| NM_002560.2:c.283-201T>C | NP_002551.2:n.283-201T>C | |
| NR_046372.1:n.587-201T>C | ||
| NR_046373.1:n.439-201T>C | ||
| XM_011538416.1:c.135-6821T>C | XP_011536718.1:n.135-6821T>C | |
| XM_011538417.1:c.331-201T>C | XP_011536719.1:n.331-201T>C | |
| XR_944559.1:n.391-201T>C | ||
| XM_011538416.2:c.135-6821T>C | XP_011536718.1:n.135-6821T>C | |
| XR_001748726.2:n.337-201T>C | ||
| XR_001748727.1:n.400-201T>C | ||
| XR_001748728.1:n.400-201T>C | ||
| XR_001748729.2:n.337-201T>C | ||
| XR_944559.2:n.390-201T>C | ||
| NM_001256796.2:c.331-201T>C | NP_001243725.1:n.331-201T>C | |
| NM_001261397.2:c.283-201T>C | NP_001248326.1:n.283-201T>C | |
| NM_001261398.2:c.283-201T>C | NP_001248327.1:n.283-201T>C | |
| NM_002560.3:c.283-201T>C MANE Select | NP_002551.2:n.283-201T>C | |
| NR_046372.2:n.319-201T>C | ||
| NR_046373.2:n.171-201T>C |